Diamond-blackfan anemia 9

Preferred Label : Diamond-blackfan anemia 9;

Symbol : DBA9;

CISMeF acronym : DBA9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in ribosomal protein S10 (RPS10, 603632.0001);

Laboratory abnormalities : Vitamin D deficiency;

Prefixed ID : #613308;

Détails

Origin ID

613308;

UMLS CUI

C2750081;

Currated CISMeF NLP mapping
- Diamond-Blackfan Anemia 9 [NCIt concept]
- Diamond-Blackfan anemia 9 [DO Concept]
- Diamond-Blackfan anemia 9 [MeSH concept]
- Diamond-Blackfan anemia 9 [MeSH Supplementary Concept]
DO Cross reference
- Diamond-Blackfan anemia 9 [DO Concept]
Genes related to phenotype
- Ribosomal protein s10 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Growth delay [HPO term]
- Low levels of vitamin D [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Blackfan-Diamond anemia [ORDO Disease]
See also inter- (CISMeF)
- RPS10 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diamond-Blackfan Anemia 9 [NCIt concept]
- Diamond-Blackfan anemia 9 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 9 [MeSH concept]
Validated automatic mappings to NTBT
- Blackfan-Diamond anemia [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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